ESTILO Y COLECTIVO DE PENSAMIENTO

One of the primary goals of this study was to assess how various genetics and health related words were defined through their usage. I wanted to know, for example, how “disease” differed from “condition” and “disorder”. However, it quickly became apparent that developing specific contextual definitions would be an impossible task. The words appeared to be used interchangeably; no distinguishing features could be delineated. In most cases, the synonymous language use was noticeable only through distant

comparison. That is, despite describing very similar concepts, different sections of the documents would use different words. Occasionally, however, interchangeable word use would be highlighted within a single sentence or paragraph.

The word “disease” was noted to be used interchangeably with “condition”, “disorder”, and “malformation”.

We will also be investigating the link between these specific genetic

conditions as mentioned above and [specific] disease - a condition where …

- Project 1, Consent Document 1, Line 35

These can help to study subjects with strong monogenic forms of common diseases, such as … Individuals with monogenic forms of common

conditions serve as models to help understand mechanism.

Previous reports of families with [condition] have shown that individuals can inherit the disease as an isolated malformation, or in association with other disorders.

- Project 2, Paper 2, Line 119

However, to date, only about 1900 of the some 6000 Mendelian genetic diseases, and many fewer of the complex common diseases, have been characterized with any certainty at the gene level. Furthermore, for most of the characterized disorders, only a subset of causative mutations are known.

- Project 1, Grant Application, Line 188

Sometimes, such as in the first quotation, the substitution is direct and seemingly purposeful. In other cases, such as the second and fourth quotations, different words are used in two adjacent sentences referring to the same phenomenon, creating the

impression of a desire to be varied in language use, but without indicating the relationship between the concepts. Nevertheless, it is evident that in these documents “disease”, “condition”, “disorder”, and “malformation” are, at least at times, used interchangeably.

The relationship between “disease” and “phenotype” is slightly more complex. In some language it would appear that they are treated as equivalent.

The severity of this phenotype ranges from []… to a mild form of the disease, in which …

- Project 2, Grant Application, Line 21

However, elsewhere disease is represented as a subset of phenotype.

Furthermore, annotation of the full range of human genomic variation provides a starting point for understanding inter-individual differences underlying various phenotypic conditions, including disease states.

- Project 1, Grant Application, Line 254

Of course, these two usages are not mutually exclusive. The words “dog” and “animal” can be used interchangeably while still recognizing that dog is a subset of animal. However, as the words are never defined, it is difficult to interpret exactly how the authors intended these words to be understood.

The interchangeability of words developed a complex web. Above, “disease” and “disorder” were used as synonyms, but “disorder” itself is used as a synonym for a large variety of other words, including “condition”, “trait”, “characteristic”, “syndrome”, and “problem”.

… described a large family from [place] with a [specific] disorder and correctly surmised that the trait was transmitted as an autosomal dominant condition.

- Project 2, Grant Application, Line 8

You are being asked to take part in a research study that will investigate [specific] disorders such as … We will also be investigating the link between these specific genetic conditions as mentioned above and [specific] disease…

- Project 1, Consent Document 1, Line 29

There are >30 such documented genomic disorders, including [], [] and []

syndromes

- Project 1, Grant Application, Line 421

Some of the most commonly reported associated disorders include []. The observation of these characteristics in multiple families suggests …

- Project 2, Grant Application, Line 46

You are part of a family with an [specific] disorder that may be inherited. We would like to study some of the genes that may cause this [specific] problem.

In turn, many of these words are again used as synonyms for other words, or for each other. Figure 3 illustrates the web of equivalency that becomes evident in these documents. The relationships indicated in this diagram are only those for which direct examples of equivalency could be found, and therefore represent only a subset of what seemed to be a much larger web. In the vast majority of cases these terms were used individually, and their equivalency is only hinted at through similar usage.

Figure 3. Equivalency of disease words

The highly variable use of such disease titles is well represented in the many names used to describe the condition studied in project 2. Through the various study documents, we see the same condition described as: a phenotype, a disease, a condition, a trait, a genetic disorder, a congenital developmental disorder, an abnormality, and a malformation.

Previous reports of families with [condition] have shown that individuals can inherit the disease as an isolated malformation, or in association with other disorders.

- Project 2, Paper 2, Line 119

Despite being the first human trait described in terms of autosomal

dominant Mendelian inheritance, little was known about the genetics of this malformation until recently.

- Project 2, Paper 3, Line 46

The severity of this phenotype ranges from … to a mild form of the disease, in which …

- Project 2, Grant Application, Line 21

[] described a large family from [place] with a [specific] disorder and correctly surmised that the trait was transmitted as an autosomal dominant condition.

- Project 2, Grant Application, Line 8

Individuals affected by the abnormality were characterized by …

The [conditions] are a group of rare, congenital developmental disorders that affect …

- Project 2, Grant Application, Line 2

[Condition] is a genetic disorder, which is inherited as an autosomal

dominant trait.

- Project 2, Consent Document 1, Line 8

[Condition] is a genetic disorder in which …

- Project 2, Consent Document 1, Line 10

I _____________________________________ understand that my/my spouse’s family has been diagnosed as having a genetic (inherited)

condition called [condition].

- Project 2, Consent Document 2, Line 7

This condition is quite mild and results in … The inheritance of this condition is called autosomal dominant, which means that …

- Project 2, Consent Document 2, Line 9

The varied use of disease related words throughout these documents increases the

complexity of the language, and increases the chance of confusion or miscommunication. Multiple words are seemingly used to describe the same phenomenon, but it is unclear if

they are meant to be understood as synonyms or just related concepts. The variable use of language makes it difficult to determine exactly what each word refers to. Is “the

disorder” the same as “the condition” or “the disease”?

The interchangeable use of “disease” and “phenotype” produces unique difficulties. A phenotype could be understood to represent all aspects of an individual. A disease, on the other hand, will only ever consist of a subset of attributes. So, while I may have the “disease phenotype” for hypertension, other aspects of my phenotype, such as my eye colour or my height, are unaffected. When the words are used interchangeably, the disease becomes the phenotype. An individual’s entire identity is subsumed by the disease title that is applied to them.

Closer inspection of the documents in project 2 indicates that, to some extent, the difficulties of variable language have been recognized. Of the many disease words used, only 2 are found in the information letter and consent form: “condition” and “disorder”. Each word is used multiple times without substitution, indicating a commitment to consistency that is not seen elsewhere. The reason for this isolated consistency is unclear. It could stem from a desire to simplify consent forms and improve readability. The consent forms could have had a single author, while the other documents had multiple. It could have been the result of a research ethics board suggestion to avoid certain

terminology. Whatever the reason, there seems to be some effort to limit the variability of language in the documents intended for potential research participants.

Perhaps more important than the limitation of variability is the language selected for use. Three terms that were not used in either the information letter or the consent form were: “congenital developmental disorder”, “malformation”, and “abnormality”. These words are frightening, and would likely be considered pejorative by some (Hodgson, Hughes et al. 2005). It makes sense to omit them from consent documents. However, if such language is inappropriate on a consent form, what makes it more appropriate to use in other documents? This language is found in published literature (papers 1-3) which is potentially available to research participants. These words are also obviously part of the normal lexicon of the researchers and are treated here as the equivalents of other disease related words. While they may be absent from the formal language of consent documents, it is reasonable to assume that these words could arise in the verbal discussions that are also part of the consent process.

In many cases, despite a negative tone, these words fulfill important technical roles. They may be avoided with patients or research participants because of fears that they may be misunderstood, but potentially remain valuable in other discourse. However, that function is only possible when each word maintains its own specific definition. A “malformation” may be quite different from a “disease”, but when the two words are used

interchangeably, as we saw in these documents, that difference is lost and the words lose their value.

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